Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCTCTGCTCGCAGAAGCTGCAGCAA[G/T]AGCTGGAGTTCCTGGAGGTGCAGGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602707 | ||||||||||||||||||||
Literature Links: |
PSMC4 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
PSMC4 - proteasome 26S subunit, ATPase 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006503.3 | 346 | Nonsense Mutation | GAG,TAG | E,* 50 | NP_006494.1 | |
NM_153001.2 | 346 | Intron | NP_694546.1 |